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40 Result(s)

ORPHA:50  Aicardi syndrome

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ORPHA:803  Amyotrophic lateral sclerosis

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ORPHA:72  Angelman syndrome

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ORPHA:117  Behçet disease

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ORPHA:610  Bethlem muscular dystrophy

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ORPHA:2767  Carpotarsal osteochondromatosis

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ORPHA:1452  Cleidocranial dysplasia

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ORPHA:313838  Coats plus syndrome

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ORPHA:98896  Duchenne muscular dystrophy

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ORPHA:309015  Familial lipoprotein lipase deficiency

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ORPHA:2059  Fryns syndrome

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ORPHA:98305  Genetic lipodystrophy

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ORPHA:2103  Guillain-Barré syndrome

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ORPHA:324924  Hereditary periodic fever syndrome

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ORPHA:388  Hirschsprung disease

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ORPHA:2203  Hyperlysinemia

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ORPHA:2902  Idiopathic chronic eosinophilic pneumonia

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ORPHA:98482  Idiopathic inflammatory myopathy

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ORPHA:79361  Inherited epidermolysis bullosa

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ORPHA:92  Juvenile idiopathic arthritis

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ORPHA:389  Langerhans cell histiocytosis

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ORPHA:506  Leigh syndrome

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ORPHA:68356  Leukodystrophy

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ORPHA:5  Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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ORPHA:79213  Mucopolysaccharidosis

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ORPHA:2073  Narcolepsy type 1

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ORPHA:636  Neurofibromatosis type 1

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ORPHA:296  Ollier disease

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ORPHA:66624  PANDAS

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ORPHA:261836  Partial deletion of chromosome 18

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ORPHA:716  Phenylketonuria

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ORPHA:739  Prader-Willi syndrome

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ORPHA:83330  Proximal spinal muscular atrophy type 1

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ORPHA:535  Rare cutaneous lupus erythematosus

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ORPHA:778  Rett syndrome

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ORPHA:819  Smith-Magenis syndrome

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ORPHA:90291  Systemic sclerosis

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ORPHA:3287  Takayasu arteritis

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ORPHA:805  Tuberous sclerosis complex

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ORPHA:904  Williams syndrome

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